Refining the genetic location of the gene for X linked hydrocephalus within Xq28.
about
Hydrocephalus and abnormal subcommissural organ in mice lacking presenilin-1 in Wnt1 cell lineagesNew domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndromeCongenital hydrocephalus: nosology and guidelines for clinical approach and genetic counsellingA silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).X linked hydrocephalus and MASA syndrome.Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus.Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3.Detection of L1 CAM mutation in a male child with mental retardation.Transvaginal sonographic detection of adducted thumbs, hydrocephalus, and agenesis of the corpus callosum at 22 postmenstrual weeks: the masa spectrum or L1 spectrum. A case report and review of the literature.Genotype-phenotype correlation in L1 associated diseases.MASA syndrome: ultrasonographic evidence in a male fetus.Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases.
P2860
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P2860
Refining the genetic location of the gene for X linked hydrocephalus within Xq28.
description
1993 nî lūn-bûn
@nan
1993 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի մարտին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Refining the genetic location of the gene for X linked hydrocephalus within Xq28.
@ast
Refining the genetic location of the gene for X linked hydrocephalus within Xq28.
@en
type
label
Refining the genetic location of the gene for X linked hydrocephalus within Xq28.
@ast
Refining the genetic location of the gene for X linked hydrocephalus within Xq28.
@en
prefLabel
Refining the genetic location of the gene for X linked hydrocephalus within Xq28.
@ast
Refining the genetic location of the gene for X linked hydrocephalus within Xq28.
@en
P2093
P2860
P356
P1476
Refining the genetic location of the gene for X linked hydrocephalus within Xq28.
@en
P2093
J Paterson
S Kenwrick
P2860
P304
P356
10.1136/JMG.30.3.214
P407
P577
1993-03-01T00:00:00Z